Linked Data
ClinVar Variation Id:
190518
ClinVar RCV Id:
RCV000170646
RCV000197421
RCV000242948
RCV000354957
RCV000584786
RCV000624949
RCV000853011
RCV001706104
dbSNP Id:
rs144888041
ExAC:
7:91622303 G / C
gnomAD v2:
7-91622303-G-C
gnomAD v3:
7-91992989-G-C
gnomAD v4:
7-91992989-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.91992989G>C , CM000669.2:g.91992989G>C | GRCh38 |
| NC_000007.13:g.91622303G>C , CM000669.1:g.91622303G>C | GRCh37 |
| NC_000007.12:g.91460239G>C | NCBI36 |
| NG_011623.1:g.57115G>C , LRG_331:g.57115G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.510G>C MANE Select | ENSP00000348573.3:p.Glu170Asp | |
| ENST00000359028.7:c.510G>C | ENSP00000351922.4:p.Glu170Asp | |
| ENST00000674381.2:c.*239G>C | ENSP00000501536.2:n.*239G>C | |
| ENST00000679448.1:c.510G>C | ENSP00000505889.1:p.Glu170Asp | |
| ENST00000679457.1:c.510G>C | ENSP00000505450.1:p.Glu170Asp | |
| ENST00000679474.1:n.732G>C | ||
| ENST00000679521.1:c.456G>C | ENSP00000505456.1:p.Glu152Asp | |
| ENST00000679554.1:c.*295G>C | ENSP00000506415.1:n.*295G>C | |
| ENST00000679722.1:n.732G>C | ||
| ENST00000679821.1:c.252G>C | ENSP00000506040.1:p.Glu84Asp | |
| ENST00000680047.1:n.732G>C | ||
| ENST00000680072.1:c.510G>C | ENSP00000506581.1:p.Glu170Asp | |
| ENST00000680074.1:n.732G>C | ||
| ENST00000680181.1:c.510G>C | ENSP00000505548.1:p.Glu170Asp | |
| ENST00000680513.1:c.510G>C | ENSP00000505284.1:p.Glu170Asp | |
| ENST00000680534.1:c.510G>C | ENSP00000506674.1:p.Glu170Asp | |
| ENST00000680766.1:c.510G>C | ENSP00000505204.1:p.Glu170Asp | |
| ENST00000680952.1:c.510G>C | ENSP00000506407.1:p.Glu170Asp | |
| ENST00000681412.1:c.510G>C | ENSP00000506486.1:p.Glu170Asp | |
| ENST00000681722.1:c.510G>C | ENSP00000506566.1:p.Glu170Asp | |
| ENST00000356239.7:c.510G>C | ENSP00000348573.3:p.Glu170Asp | |
| ENST00000358100.6:c.510G>C | ENSP00000350813.3:p.Glu170Asp | |
| ENST00000359028.6:c.543G>C | ENSP00000351922.3:p.Glu181Asp | |
| ENST00000394564.5:c.510G>C | ENSP00000378065.1:p.Glu170Asp | |
| ENST00000438114.1:c.363G>C | ENSP00000391704.1:p.Glu121Asp | |
| ENST00000493453.1:n.730G>C | ||
| ENST00000619023.4:c.534G>C | ENSP00000480807.1:p.Glu178Asp | |
| NM_005751.4:c.510G>C , LRG_331t1:c.510G>C | NP_005742.4:p.Glu170Asp | |
| NM_147185.2:c.510G>C | NP_671714.1:p.Glu170Asp | |
| XM_006715827.1:c.510G>C | XP_006715890.1:p.Glu170Asp | |
| XM_011515709.1:c.546G>C | XP_011514011.1:p.Glu182Asp | |
| XM_011515710.1:c.546G>C | XP_011514012.1:p.Glu182Asp | |
| XM_011515711.1:c.510G>C | XP_011514013.1:p.Glu170Asp | |
| XM_011515712.1:c.546G>C | XP_011514014.1:p.Glu182Asp | |
| XM_011515713.1:c.492G>C | XP_011514015.1:p.Glu164Asp | |
| XM_011515714.1:c.546G>C | XP_011514016.1:p.Glu182Asp | |
| XM_011515716.1:c.546G>C | XP_011514018.1:p.Glu182Asp | |
| XM_011515717.1:c.546G>C | XP_011514019.1:p.Glu182Asp | |
| XM_011515718.1:c.546G>C | XP_011514020.1:p.Glu182Asp | |
| XM_011515719.1:c.546G>C | XP_011514021.1:p.Glu182Asp | |
| XM_011515720.1:c.546G>C | XP_011514022.1:p.Glu182Asp | |
| XM_017011642.2:c.510G>C | XP_016867131.1:p.Glu170Asp | |
| XM_017011643.2:c.510G>C | XP_016867132.1:p.Glu170Asp | |
| XM_017011644.2:c.510G>C | XP_016867133.1:p.Glu170Asp | |
| XM_017011645.2:c.456G>C | XP_016867134.1:p.Glu152Asp | |
| XM_017011646.2:c.510G>C | XP_016867135.1:p.Glu170Asp | |
| XM_017011647.2:c.510G>C | XP_016867136.1:p.Glu170Asp | |
| XM_017011648.2:c.510G>C | XP_016867137.1:p.Glu170Asp | |
| XM_017011649.2:c.510G>C | XP_016867138.1:p.Glu170Asp | |
| XM_017011650.2:c.510G>C | XP_016867139.1:p.Glu170Asp | |
| XM_017011651.2:c.510G>C | XP_016867140.1:p.Glu170Asp | |
| XM_017011652.2:c.510G>C | XP_016867141.1:p.Glu170Asp | |
| XM_017011653.2:c.510G>C | XP_016867142.1:p.Glu170Asp | |
| XM_017011654.2:c.510G>C | XP_016867143.1:p.Glu170Asp | |
| XM_017011655.2:c.138G>C | XP_016867144.1:p.Glu46Asp | |
| XM_017011656.2:c.138G>C | XP_016867145.1:p.Glu46Asp | |
| XM_024446631.1:c.510G>C | XP_024302399.1:p.Glu170Asp | |
| NM_147185.3:c.510G>C | NP_671714.1:p.Glu170Asp | |
| NM_005751.5:c.510G>C MANE Select | NP_005742.4:p.Glu170Asp |